Journal article
Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome
Pediatric research, Vol.55(6), pp.908-911
06/2004
DOI: 10.1203/01.pdr.0000127013.14444.9c
PMID: 15155861
Abstract
Bardet-Biedl syndrome (BBS) is a pleiotropic genetic disorder with the cardinal features of obesity, photoreceptor degeneration, polydactyly, hypogenitalism, renal abnormalities, and developmental delay. Other associated clinical findings in BBS patients include diabetes, hypertension, and congenital heart defects. The clinical diagnosis is based on the presence of at least four of the cardinal symptoms. BBS is recognized to be a genetically heterogeneous autosomal recessive disorder mapping to eight known loci. Positional cloning and candidate gene evaluation have resulted in the identification of six BBS genes. Mutation of one of these genes, BBS6, also causes McKusick-Kaufman syndrome. The BBS6 gene is predicted to code for a protein with sequence similarity to the chaperonin family of proteins. The predicted BBS1, BBS2, BBS4, BBS7, and BBS8 gene products do not seem to be molecular chaperones, on the basis of a lack of sequence similarity to the chaperonin family of proteins. The identification of BBS8 suggests a possible role in cilia function for BBS gene products. It remains to be determined whether the multiple BBS proteins are part of a multisubunit complex or do not directly interact with each other but are part of a common pathway. The study of BBS illustrates the value of using isolated inbred populations for the study of human genetic diseases and suggests strategies for facilitating the study of complex diseases and traits.
Details
- Title: Subtitle
- Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome
- Creators
- Val C Sheffield - Department of Pediatrics, Division of Medical Genetics, Howard Hughes Medical Institute, University of Iowa, 4181 MERF, Iowa City, IA 52242, USA. val-sheffield@uiowa.edu
- Resource Type
- Journal article
- Publication Details
- Pediatric research, Vol.55(6), pp.908-911
- Publisher
- United States
- DOI
- 10.1203/01.pdr.0000127013.14444.9c
- PMID
- 15155861
- ISSN
- 0031-3998
- eISSN
- 1530-0447
- Grant note
- HL62178 / NHLBI NIH HHS HL55006 / NHLBI NIH HHS EY11298 / NEI NIH HHS
- Language
- English
- Date published
- 06/2004
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9984065383502771
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